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rs80359496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TTTAAGT) 6 BRCA2 variant considered pathogenic for breast cancer
(TTTAAGT;TTTAAGT) 0 common in clinvar


Make rs80359496(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339572
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359496
ebirs80359496
HLIrs80359496
Exacrs80359496
Varsomers80359496
Maprs80359496
PheGenIrs80359496
hapmaprs80359496
1000 genomesrs80359496
hgdprs80359496
ensemblrs80359496
gopubmedrs80359496
geneviewrs80359496
scholarrs80359496
googlers80359496
pharmgkbrs80359496
gwascentralrs80359496
openSNPrs80359496
23andMers80359496
23andMe allrs80359496
SNP Nexus

SNPshotrs80359496
SNPdbers80359496
MSV3drs80359496
GWAS Ctlgrs80359496
Max Magnitude6
rs80359496, also known as 5445del7, c.5217_5223delTTTAAGT and p.Tyr1739_Ser1741?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359496(;)
Alt rs80359496(;)
Reference rs80359496(TTTAAGT;TTTAAGT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32913709_32913715delTTTAAGT
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000044613.2, RCV000077350.4, RCV000131077.3, RCV000219434.1,